All of the following statements are true about wiskott aldrich syndrome except?
Correct Answer: It is an autosoinal recessive disorder
Description: It is an autosomal recessive disorder [Ref: Harrison 17thle p. 2060J VVISKOTT - ALDRICH SYNDROME (Immunodeficiency with thrombocytopenia and Eczema). Wiskott Aldrich syndrome is characterized by : Thrombocytopenie purpuradeg Atopic dermatitisdeg (Eczema) Normal appearing megakaryocytes but small defective plateletsdeg. Undue susceptibility to infectiondeg Genetic and Pathogenesis Wiskott aldrich syndrome is an X-linked recessive diseasee. It is caused due to mutation in WASP genedeg. The WASP protein encoded by this gene is expressed in cell of all hematopoietic lineage but paicuarly in platelets and T lymphocytes. WASP deficient platelets are small and have a shoened half life. Patients with this defect uniformly have an impaired humoral immune responses' to polysaccharide antigens as evidenced by absent or markedly diminished isohemagglutinin and poor or absent antibody responses after immunization with polysaccharide vaccine. There is an accelerated rate of synthesis as well as hypercatabolism of albumin IgG, IgA and IgM resulting in highly variable concentrations of different immunoglobulins even within the same patient. The predominant immunoglobulin pattern is :? Low serum level of IgA4deg. levated IgA and IgEdeg Normal or slightly low IgG concentrationdeg The thymus is morphologically normal, at least early in the course of the disease, but there is progressive secondary depletion of T lymphocytes in the peripheral blood and in the T cell zones (paracoical areas) of the lymph nodes with variable loss of cellular immunity. Treatment :? Transplantations' of histocompatible bone marrow from a sibling donor .following myeloablative therapy can correct both the hematologic and immunologic abnormalities. In patients lacking suitable donor, intravenous immunoglobulins infusions or splenectomy may improve platelet counts and reduce the risk of hemorrhage.
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